Incidental Mutation 'IGL03178:Eif2b4'
| ID |
412097 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2b4
|
| Ensembl Gene |
ENSMUSG00000029145 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
| Synonyms |
Eif2b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31344997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 550
(I550N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000202758]
[ENSMUST00000201154]
|
| AlphaFold |
Q61749 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077693
AA Change: I508N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: I508N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
coiled coil region
|
29 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
93 |
122 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
219 |
510 |
3.4e-97 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114603
AA Change: I528N
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: I528N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166769
AA Change: I528N
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: I528N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200724
AA Change: I228N
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200977
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202758
AA Change: I550N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: I550N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
135 |
164 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
261 |
552 |
2.3e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201154
|
| SMART Domains |
Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
A |
G |
5: 34,771,589 (GRCm39) |
|
probably null |
Het |
| Afg2a |
T |
C |
3: 37,632,932 (GRCm39) |
L846P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,870 (GRCm39) |
L711* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,488,973 (GRCm39) |
W1291R |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,271,739 (GRCm39) |
V545A |
possibly damaging |
Het |
| Best3 |
A |
G |
10: 116,824,684 (GRCm39) |
Y50C |
probably damaging |
Het |
| C1qtnf2 |
C |
A |
11: 43,381,816 (GRCm39) |
D179E |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,723,985 (GRCm39) |
S268T |
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,747,517 (GRCm39) |
G505R |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,696,877 (GRCm39) |
N683K |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,051,556 (GRCm39) |
I767N |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,858,211 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,506,525 (GRCm39) |
N201D |
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,429,154 (GRCm39) |
Y9* |
probably null |
Het |
| Ect2 |
T |
A |
3: 27,203,009 (GRCm39) |
I79L |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,729,402 (GRCm39) |
M476L |
probably benign |
Het |
| Gm20425 |
A |
G |
9: 103,087,751 (GRCm39) |
Y654H |
probably damaging |
Het |
| Gm5884 |
T |
C |
6: 128,622,690 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c6 |
A |
T |
10: 40,125,718 (GRCm39) |
D166E |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,706,237 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
A |
G |
4: 124,679,047 (GRCm39) |
T485A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,709,848 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
C |
11: 82,680,548 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,166,696 (GRCm39) |
Y1047* |
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,853 (GRCm39) |
E281G |
possibly damaging |
Het |
| Mmel1 |
A |
G |
4: 154,975,311 (GRCm39) |
T431A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,590,239 (GRCm39) |
V58A |
probably benign |
Het |
| Myo1e |
A |
T |
9: 70,194,231 (GRCm39) |
H14L |
possibly damaging |
Het |
| Myo1g |
C |
T |
11: 6,462,181 (GRCm39) |
V594M |
probably damaging |
Het |
| Nr4a2 |
G |
A |
2: 57,000,778 (GRCm39) |
R226C |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,361,202 (GRCm39) |
L21P |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,817 (GRCm39) |
D89G |
possibly damaging |
Het |
| Pate12 |
T |
G |
9: 36,344,132 (GRCm39) |
S38R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,118 (GRCm39) |
I1371N |
probably damaging |
Het |
| Pramel29 |
A |
G |
4: 143,934,821 (GRCm39) |
|
probably null |
Het |
| Proser3 |
G |
A |
7: 30,243,034 (GRCm39) |
A181V |
probably damaging |
Het |
| Pudp |
A |
T |
18: 50,701,472 (GRCm39) |
L87Q |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,008,163 (GRCm39) |
S559P |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,449,756 (GRCm39) |
H85R |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,101,588 (GRCm39) |
D15G |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,239,886 (GRCm39) |
A1899V |
unknown |
Het |
| Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
| Trgv7 |
C |
A |
13: 19,362,211 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,719,567 (GRCm39) |
P25S |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,869,446 (GRCm39) |
C2650F |
probably damaging |
Het |
| Wdr83os |
T |
C |
8: 85,807,870 (GRCm39) |
L40P |
probably damaging |
Het |
| Zfp977 |
T |
C |
7: 42,232,072 (GRCm39) |
R64G |
probably damaging |
Het |
|
| Other mutations in Eif2b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01469:Eif2b4
|
APN |
5 |
31,345,111 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02525:Eif2b4
|
APN |
5 |
31,346,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03267:Eif2b4
|
APN |
5 |
31,350,003 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03379:Eif2b4
|
APN |
5 |
31,347,355 (GRCm39) |
splice site |
probably benign |
|
|
IGL03397:Eif2b4
|
APN |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Eif2b4
|
UTSW |
5 |
31,345,452 (GRCm39) |
splice site |
probably benign |
|
|
R1549:Eif2b4
|
UTSW |
5 |
31,350,265 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1636:Eif2b4
|
UTSW |
5 |
31,349,610 (GRCm39) |
splice site |
probably null |
|
|
R1753:Eif2b4
|
UTSW |
5 |
31,350,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Eif2b4
|
UTSW |
5 |
31,349,918 (GRCm39) |
splice site |
probably benign |
|
|
R2317:Eif2b4
|
UTSW |
5 |
31,348,920 (GRCm39) |
splice site |
probably null |
|
|
R3808:Eif2b4
|
UTSW |
5 |
31,348,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3809:Eif2b4
|
UTSW |
5 |
31,348,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4746:Eif2b4
|
UTSW |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Eif2b4
|
UTSW |
5 |
31,348,575 (GRCm39) |
nonsense |
probably null |
|
|
R4798:Eif2b4
|
UTSW |
5 |
31,346,864 (GRCm39) |
intron |
probably benign |
|
|
R4895:Eif2b4
|
UTSW |
5 |
31,350,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4936:Eif2b4
|
UTSW |
5 |
31,350,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5588:Eif2b4
|
UTSW |
5 |
31,349,517 (GRCm39) |
nonsense |
probably null |
|
|
R5660:Eif2b4
|
UTSW |
5 |
31,348,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6363:Eif2b4
|
UTSW |
5 |
31,348,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6653:Eif2b4
|
UTSW |
5 |
31,349,551 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6750:Eif2b4
|
UTSW |
5 |
31,347,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7062:Eif2b4
|
UTSW |
5 |
31,350,175 (GRCm39) |
missense |
probably benign |
|
|
R7221:Eif2b4
|
UTSW |
5 |
31,345,131 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7360:Eif2b4
|
UTSW |
5 |
31,348,719 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7779:Eif2b4
|
UTSW |
5 |
31,347,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Eif2b4
|
UTSW |
5 |
31,345,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Eif2b4
|
UTSW |
5 |
31,348,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8990:Eif2b4
|
UTSW |
5 |
31,347,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9170:Eif2b4
|
UTSW |
5 |
31,345,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Eif2b4
|
UTSW |
5 |
31,348,500 (GRCm39) |
missense |
probably benign |
|
|
R9458:Eif2b4
|
UTSW |
5 |
31,350,609 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation